[Polymorphism distribution of ST14(DXS52) VNTR in normal individuals in northeastern region of China and its application in gene diagnosis of hemophilia A].
OBJECTIVE
To find out the polymorphism distribution of St14(DXS52) variable number of tandem repeat (VNTR) in normal individuals in the northeastern region of China and hence provide a proof for the gene diagnosis of hemophilia A.


METHODS
60 unrelated individuals (male 12, female 48) in the northeastern region of China were detected using PCR method.


RESULTS
8 allelic fragments detected were 0.7kb(A), 1. 3kb(B), 1.39kb(C), 1.57kb(D), 1.63kb(E), 1.69kb(F), 2.1kb(G), 2. 4kb(H) long in turn. Their frequencies were A 0.38, B0.046, C0.232, E0.111, F0.130, G0.009, H0.009 respectively. Polymorphism information contents (PIC) was 76.36%. Gene diagnosis of 3 hemophilia A patients was performed using this VNTR polymorphism. In one family a female was determined to be a normal individual, not a carrier; 2 male fetus patients were detected in other 2 families.


CONCLUSIONS
St14 is a valuable polymorphism marker for gene diagnosis of hemophilia A.
Chunlian
J
J
Department of Medical Genetics, China Medical University, Shenyang, 110001 P. R. China.
Changkun
L
L
Jun
S
S
Li
J
J
Wenhan
D
D
Xue
Z
Z
Kailai
S
S
D005260:Female; D008040:Genetic Linkage; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid